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Article

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

American journal of human genetics - 1 Jun 2007

Golzio Christelle, Martinovic-Bouriel Jelena, Thomas Sophie, Mougou-Zrelli Soumaya, Grattagliano-Bessieres Bettina, Bonniere Maryse, Delahaye Sophie, Munnich Arnold, Encha-Razavi Ferechte, Lyonnet Stanislas, Vekemans Michel, Attie-Bitach Tania, Etchevers Heather C

Abstract excerpt

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an integral cell-membrane protein that favors RA uptake from soluble retinol-binding protein; its transcription is directly regulated by RA levels. Molecular analysis of STRA6 was undertaken in two human fetuses from...

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Identifiers

PMID: 17503335
DOI: 10.1086/518177
PMCID: PMC1867105

Genes

STRA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.PMID 17503335Read ↗

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